The Importance of Early Diagnosis and Treatment

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Tomswife

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ALS, as we know, does not start with diagnosis. I get frustrated when asked the date of PALS diagnosis.
Studies have shown a presymptomatic stage of ALS. And, those fleeting pre-symptoms are the real beginnings. Many PALS can identify the symptoms that caused them to seek medical advice. For my PALS it was slurred speech and difficulty swallowing, March 2022. Those are the symptoms that persist. But in retrospect, there are incidents that are fleeting, happen once or so. These events are puzzling. With my PALS it was difficulty holding a drywall screwdriver. Why is he having trouble? He did not have arthritis. We talked about his hands. It did not make sense. We watched drywalling videos on YouTube, and purchased a specialized screwdriver! This was November/December 2021.

I am suggesting to try however you can to get a CORRECT diagnosis as early as possible. There is no single test. Clinics provide good care, and know ALS, but the wait of months for an appointment is not best for PALS. It is sometimes necessary to have multiple paths toward a diagnosis, meaning a qualified MND neurologist, perhaps while waiting for the clinic appointment. My PALS dx was done by a neurologist not affiliated with a clinic. Tests started March 2022 by our PCP. Referral to neurologist and EMG July 2022. Dx July 2022. ALS Clinic August 2022 (with pressure from me for immediate appointment).

Note: Is this ALS? The forum has a thread for undiagnosed people who have difficult symptoms. Our advice is to have the right tests and listen to your physicians. If you are told you do not have ALS, move on be well and get help for your symptoms.

This is an excerpt from article at n.neurology dot org.
July 12, 2022; 99 (2) CONTEMPORARY ISSUES IN PRACTICE, EDUCATION, & RESEARCH
Hastening the Diagnosis of Amyotrophic Lateral Sclerosis

Studies have found...."roots in the "presymptomatic" stage indicate that ∼20% loss of motor neurons had already occurred. Sera collected from individuals who later developed ALS and sera from presymptomatic members of families with ALS harboring pathogenic gene variants demonstrated high neurofilament (Nf) levels, again suggesting that the neurodegenerative process is already active at a clinically presymptomatic stage.Potential benefits of hastening the diagnosis of ALS include earlier initiation of therapy to slow the fundamental neurodegenerative process. Such effects are observed in treatment with rilzuole, edaravone, methycobalamin, and sodium phenylbutyrate-taurursodiol in patient care and clinical trial settings. Early initiation of multidisciplinary care results in cost savings and prolonged survival. Early diagnosis after symptom onset also appears to reduce psychological distress. So, how can we facilitate an earlier diagnosis of ALS? We already have the necessary tools. New and simple ALS diagnostic criteria (Gold Coast Criteria) have been introduced along with genetic testing. At least two studies provide Class II evidence that establishes the reliability and sensitivity of cerebrospinal fluid and/or serum Nf levels in supporting a diagnosis of ALS. Challenges, however, still exist as to how to facilitate earlier recognition of possible ALS by primary care physicians and other non-neurologist providers, and how to foster a sense of urgency among neurologists to accelerate the process of diagnosis".
 
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This is from the Mayo Clinic. The tests are not listed in order of when they should be done, and not all tests are needed.
Physical exam - is not listed. And it is important.

Diagnosis
Amyotrophic lateral sclerosis, known as ALS, can be hard to diagnose early because it can have symptoms similar to other diseases. Tests to rule out other conditions or help diagnose ALS might include:

Electromyogram (EMG). A needle is inserted through the skin into various muscles. The test records the electrical activity of the muscles when they contract and when they're at rest. This can determine if there is a problem with the muscles or nerves.

Nerve conduction study. This study measures your nerves' ability to send impulses to muscles in different areas of the body. This test can determine if you have nerve damage. EMG and nerve conduction studies are almost always done together.

MRI. Using radio waves and a powerful magnetic field, an MRI produces detailed images of the brain and spinal cord. An MRI can reveal spinal cord tumors, herniated disks in the neck or other conditions that might be causing your symptoms. The highest resolution cameras may sometimes see ALS changes themselves.

Blood and urine tests. Analyzing samples of your blood and urine in the laboratory might help eliminate other possible causes of your symptoms. Serum neurofilament light levels, which are measured from blood samples, are generally high in people with ALS. The test can help make a diagnosis early in the disease.

Spinal tap, known as a lumbar puncture. This involves removing a sample of spinal fluid for laboratory testing. Spinal fluid is removed using a small needle inserted between two bones in the lower back. The spinal fluid appears typical in people with ALS but may uncover another cause of symptoms.

Muscle biopsy. If your health care provider believes you may have a muscle disease rather than ALS, you might undergo a muscle biopsy. While you're under local anesthesia, a small piece of muscle is removed and sent to a lab for analysis.

Nerve biopsy. If your health care provider believes you may have a nerve disease rather than ALS, you might undergo a nerve biopsy. While you're under local anesthesia, a small piece of nerve is removed and sent to a lab for analysis.
 
There is a similar article at Mass General website

massgeneral dot org/neurology/als/patient-education/diagnosing-als
 
Diagnosis is very complicated and there is certainly a push to speed things up. There is an algorithm that ALS specialists were trying to circulate to pcps and others to identify red flags for quicker referrals. If I can find it I will post it.

it is important to note that as you said not all the tests listed are always required depending on presentation. It is also true that at any point someone may step off the path either because of another diagnosis being made or because tests or clinical exams exclude ALS

one should also note that nfl, although useful at times, is neither diagnostic or exclusionary. It is non specific so elevations can be from other causes. It is also true that some PALS have normal or near normal levels. it is also ironically true that vented paralyzed PALS do not usually have very high levels- perhaps because there is no longer a lot let to neurodegenerate
 
I am concerned about those who wait 4 or more months for a clinic appointment. That is what prompted me to write.
And, for Tom, I think some bulbar onset can be diagnosed more easily after ruling out stroke and myasthenia Gravis and other similar causes.
 
Access is a problem for sure. Yet we read of people who don’t seem to have worrying symptoms who get seen in clinics - sometimes more than one which always surprises me. I had to produce my emg to get seen at mgh
 
Yes. Columbia wanted all tests submitted to them, prior to seeing us. The tests were reviewed, and only then I was told we could see Dr. Hiroshi Mitsumoto, who at that time only performed admission screening for the clinic. Dr. Mitsumoto only held these meetings one day a week. Hence, the long wait for many people. I was told there was a cancelation (plus I did beg), so we waited one month.
 
It’s a joke. I know my body and the things I deal with each minute. I’ve heard, “I wish they(providers) could do a day in my life…” For me, I agree. No other disease presents itself as ALS does. Every time I saw/see a provider, I feel like I just went 10 rounds boxing. This is true emotionally and physically. I understand that no one wants a death sentence diagnosis. I missed out on many drug trials because of this “diagnosis dance.” Have compassion please.
 
The major clinics all seem to have a long wait - unfortunate as it certainly contradicts the importance of an early diagnosis.

Toms Wife, I also agree that the bulbar onset, or in my case, "Progressive Bulbar Palsy" - could be given more weight in terms of early diagnosis and treatment.
 
Tom’s Wife: I’m very sorry for your loss. And, I related to your story about the screwdriver. My PALs saga started at a restaurant where he had been served steak, and for some reason was having trouble cutting it. Was the steak too tough? Knife not sharp enough? It would never in a million years have occurred to us it was the beginning of ALS.

I think we need more awareness among the general public, primary care providers, and especially HAND SURGEONS about how the first signs of ALS manifest. I heard one story of a woman who was operated on for carpal tunnel. Turned out it was ALS. How much time did she lose with that misdiagnosis?
 
AFA "I think some bulbar onset can be diagnosed more easily after ruling out stroke and myasthenia Gravis and other similar causes." Keep in mind that there are cases where patients have both. I've been diagnosed with MG, CIDP, and ALS. I don't fit well into any of the buckets; however, every EMG/NCS has been significantly abnormal, my phrenic nerve is fully paralyzed so I have a trach and on a vent 90% of the time, standing by to get a feeding tube since I have trouble swallowing and keep developing aspiration pneumonia, and my power chair is supposed to be delivered next week since I have increasing balance and leg weakness issues. Do do I have ALS? I've been told yes by part of my team. Do I have Myasthenia Gravis and CIDP - yes, another part of my team says I have those too. So it's tough for patients, like me, that have most of the signs (but not all ) for more than one Neuromuscular Disease. At least they all agree (though I disagree) that I won't be alive in six months. What do they know?
 
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